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Professor Sue Povey - Memorial Symposium

For those of you who were unable to attend the Symposium held for Sue Povey on Friday 12th July, please see the following link:

Within the article, you will find a collection of photos of the event as well as a copy of the ‘slide show’ of Sue that was shown throughout the day. 

Sue was a great friend and supporter of the Human Variome Project. She will be dearly missed.


DRAFT proposal for comment from members: SVD-WG008 (RefSeq)

We would appreciate your input... 

Proposal SVD-WG008 (RefSeq) is now open for Community Consultation. You are invited to review and comment on this proposal.  

Click here to view the proposal

Deadline for comments - Monday 30th September - comments to or

Thank you
On behalf of the Sequence Variant Description Working Group,
Johan den Dunnen (chair)



PUBLISHED: Ethics Checklist for Database Curators and Submitters

Click here to view the paper

We encourage all members to:
1. Circulate it to their colleagues and students
2. Post on their web-site
3. Suggest the guide be used as a basis for discussion at up-coming national meetings and local workshops


The paper has also appeared online at Human Mutation. PDF not available here as of yet.

Click here to view the paper

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Newsletter - May 2019


“Genomic Education and Training for Healthcare”; sponsored by the ‘Global Consortium for Genomic Education (GC4GE)’, The Genomic Medicine Foundation, UK ( ); Convener: Professor Dhavendra Kumar; CEO & Medical Director- The Genomic Medicine Foundation (UK).

This workshop was held on 24th April 2019, at the Human Genome Meeting 2019, Seoul, South Korea. Aims and objectives included-


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Consortium Update - March 2019


Plase find the link to our latest newsletter here:

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HGVS nomenclature course @ HGM2019



                Seoul, South Korea - Wednesday 24 April 2019


Interested in HGVS nomenclature? Want to learn the basics? Want to increase your knowledge? Wiling to test your skills in describing variants?


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Consortium Update - July 2018
Google Plus

GG2020 2018 Conference -
Precision Medicine in Thalassaemia

7th & 8th July 2018  Penang, Malaysia. 

GG2020 2020 Challenge has been making great progress in recent months. There are two important achievements to report.

First is the recent successful meeting of members held in Penang Malaysia in early July. This international meeting profiled what was happening in different parts of the world with several keynote presentations from key partners to the project, including Prof Sir John Burn, Dr Carsten Lederer from CING Cyprus and Dr Michael Angastiniotis CMO from TIF. Topics covered included addressing needs of patients in low resource settings, complexities of genotype and phenotype linking,  the challenge of incorporating precision medicine into haemoglobinopathies. The full program can be reviewed on the GG2020 website and the presenters slides are available – click here 
The team from Malaysia, led by Professor Zilfalil bin Alwi, who heads the Malaysian Country Node and it Co-chair of GG2020, are to be congratulated on organizing these quality meetings.
Delegates stayed on to participate in the annual meeting of the Malaysian Society of Human Genetics and the ASEAN Biomolecular Society meeting.
Second is to report that GG2020 Challenge has received funding for three years for a project to expand and ‘internationalise’ the ITHANET database and portal. This database forms the core of GG2020 activities and is based at CING in Cyprus. Following the establishment of an international expert panel to provide formal input to ClinGen on haemoglobinopathies as part of GG20202, it has become increasingly necessary to fund this work and expand the team who curates ITHANET.  Those wanting the know more about this should contact Petros Kountouris who is leading the project -  - we thank the Cyprus Research Promotion Foundation who has provide the funding. Partners to the project are looking forward to three more years of successful work!

Blockchain – heard about it? Interested in it?  

In recent months, members of the Gene and Disease Locus Specific Database Council (GDLSC) of Global Variome have been sharing knowledge on this new technology and debating its utility for variant databases.  This is a call for anyone interested in following this topic and being linked up to a few others who are tracking developments. If you are interested in being part of the group to monitor blockchain technologies, discuss and occasionally report back to HVP members and Councils – please contact Helen Robinson –


You may be aware that LOVD is undergoing some organizational changes to ensure its sustainability and will be moving under the auspices of the HVP (Human Variome Project).  As part of this, we are planning to form a user group aimed at involving LOVD users more directly in its development whilst providing more training and support for users.  The use of LOVD has once again grown rapidly in the past year with many more users, so it seems a good time to do this.


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HGVS nomenclature course @ ESHG 2018



                Milan, Friday June 15, 2018

with the kind support of the European Society of Human Genetics




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HVP @ Human Genome Meeting 2018, Yokohama

HVP will offer several important sessions at HuGO 2018 in Yokohama.  The speakers have been selected to profile what is currently happening in international variant information sharing, with emphasis on projects which are making great strides in resolving the practical issues in order to accelerate progress in all parts of the world. Different aspects have been highlighted including: the need for standardized approaches to describe and share variants; the practical case for sharing global knowledge - BRCA Exchange – is explained together with further local examples; the case for equitable use of genomics in clinical practice and the implications for ensuring knowledge of the context of diverse populations; how an approach to haemoglobinopathies can provide an example for promoting the use of genomic techniques in low and middle income countries for better health outcomes; and how the BRCA Exchange is helping to highlight the need for better quality genomic variant databases required for improved interpretation.


See program of HVP sessions below...